ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3566C>T (p.Thr1189Met)

gnomAD frequency: 0.00001  dbSNP: rs997363236
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001238244 SCV001411043 likely benign Alagille syndrome due to a JAG1 point mutation 2023-06-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004629513 SCV005127499 uncertain significance Cardiovascular phenotype 2024-05-23 criteria provided, single submitter clinical testing The p.T1189M variant (also known as c.3566C>T), located in coding exon 26 of the JAG1 gene, results from a C to T substitution at nucleotide position 3566. The threonine at codon 1189 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
PreventionGenetics, part of Exact Sciences RCV004740624 SCV005351149 uncertain significance JAG1-related disorder 2024-07-12 no assertion criteria provided clinical testing The JAG1 c.3566C>T variant is predicted to result in the amino acid substitution p.Thr1189Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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